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2022/11/07 03:51:22

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Main article: Genetics

Genes - regions of DNA

Main article: Genes

The gene is a structural and functional unit of heredity of living organisms. The gene is a region defining the DNA sequence of a particular amino acid compound. Genes determine the hereditary traits of organisms passed from parents to offspring when they reproduce.

Microarray containing DNA fragments corresponding to certain genes or fragments thereof with known mutations

Are there genes responsible for hard work or perseverance?

Yes, there is such a hereditary component of variability, and it is quite large. This gene under a slightly different name is in the "big five" according to the generally accepted classification of human temperament.

Five complex characteristics are distinguished, and all of them have high heritability: extraversion, neuroticism, benevolence, openness to experience, and what interests us is conscientiousness.

Hard work is 40-60 percent determined by genes, and the other half - by differences in environment, culture, upbringing. This is a very high degree of heritability, and it can have a significant impact on a person's personality.

MAD1L1 - responsible for proper cell division

2022: Woman with damaged MAD1L1 suffers cancer five times and survives

Doctors in Spain faced an extraordinary case in 2022: a 36-year-old patient was repeatedly diagnosed with malignant tumors in different parts of the body, but each time they disappeared on their own. Now they managed to reveal the secret of her incredible health, which turned out to be surprisingly sinister, because this woman should not have been born at all.

No other person would survive such a number of tumors of different types in different parts of the body: even if the body or doctors managed to cope, say, with carcinoma, sarcoma would probably finish off a weakened body. However, this incredible woman survived all the adversity that fell on her and, despite a number of congenital pathologies like microcephaly, lives a relatively normal life.

To understand where the patient has such incredible resistance to, to cancer researchers from the National Cancer Research Center () Spain studied a sample blood taken from a woman, seeking to detect "breakdowns" there in genes most often associated with hereditary cancer.

Surprisingly, they did not reveal such, but they found something more interesting: a mutation in the MAD1L1 gene, which in our body is responsible for the correct division of cells. In the event of a "breakdown" of this gene, aneuploid cells appear that contain the "wrong" number of chromosomes. In particular, the patient in almost a third of all blood cells of chromosomes was not 46, as in ordinary people, but on the chromosome less or more.

Like almost any other gene, MAD1L1 is represented in our body by two copies, one of which came from the father, the second from the mother. In animal models, scientists have found that the "breakdown" of two copies of genes at once leads to the death of the body at the embryo stage. However, a completely alive woman sat in front of them, who mutated both genes MAD1L1, "giving" her both a terrible vulnerability and amazing resistance to malignant tumors.

Researchers suggest that constantly colliding with cells with the wrong number of chromosomes, the woman's body was always in a state of "full combat readiness," so the appearance of another "wrong" cell - cancer - led to a super-aggressive immune reaction, which destroyed the nascent tumor.

Although the experience of an amazing patient is hardly useful to other people who are doing well with at least one gene of MAD1L1, the fact that the chronically active immune system is able to destroy cells with an abnormal number of chromosomes is an important discovery that could lead to new ways to treat cancer. Since aneuploidy is characteristic of cancer cells, in the future scientists will be able to develop a way to "set" the patient's immunity on them so that the body itself copes with a dangerous disease.